Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4635447014 | Hereditary thrombocytopenia with early-onset myelofibrosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4635448016 | Hereditary thrombocytopenia with early-onset myelofibrosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5399402018 | A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399403011 | A rare syndromic constitutional thrombocytopenia characterised by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-haematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary thrombocytopenia with early-onset myelofibrosis | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary thrombocytopenia with early-onset myelofibrosis | Is a | Hereditary thrombocytopenic disorder (disorder) | true | Inferred relationship | Some | ||
| Hereditary thrombocytopenia with early-onset myelofibrosis | Finding site | Body system structure | true | Inferred relationship | Some | 3 | |
| Hereditary thrombocytopenia with early-onset myelofibrosis | Interprets | Hemostatic function | true | Inferred relationship | Some | 1 | |
| Hereditary thrombocytopenia with early-onset myelofibrosis | Has interpretation | Abnormal | true | Inferred relationship | Some | 1 | |
| Hereditary thrombocytopenia with early-onset myelofibrosis | Interprets | Platelet count | true | Inferred relationship | Some | 2 | |
| Hereditary thrombocytopenia with early-onset myelofibrosis | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR